Linked Data
ClinVar Variation Id:
3048466
ClinVar RCV Id:
RCV004552823
dbSNP Id:
rs533937762
gnomAD v3:
20-36893908-AGTGGGAGGCTCTG-A
gnomAD v4:
20-36893908-AGTGGGAGGCTCTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36893916_36893928del , CM000682.2:g.36893916_36893928del | GRCh38 |
| NC_000020.10:g.35522319_35522331del , CM000682.1:g.35522319_35522331del | GRCh37 |
| NC_000020.9:g.34955733_34955745del | NCBI36 |
| NG_017059.1:g.62923_62935del , LRG_281:g.62923_62935del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644114.2:c.1514-855_1514-843del (SAMHD1) | ENSP00000494354.2:n.1514-855_1514-843del | |
| ENST00000644250.2:c.1642-855_1642-843del (SAMHD1) | ENSP00000493810.2:n.1642-855_1642-843del | |
| ENST00000682773.1:c.1747-855_1747-843del (SAMHD1) | ENSP00000507178.1:n.1747-855_1747-843del | |
| ENST00000683720.1:c.1785-855_1785-843del (SAMHD1) | ENSP00000508219.1:n.1785-855_1785-843del | |
| ENST00000683766.1:c.1747-855_1747-843del (SAMHD1) | ENSP00000506877.1:n.1747-855_1747-843del | |
| ENST00000217320.8:c.*1072_*1084del (TLDC2) MANE Select | ENSP00000217320.3:n.*1072_*1084del | |
| ENST00000262878.5:c.1642-855_1642-843del (SAMHD1) | ENSP00000262878.5:n.1642-855_1642-843del | |
| ENST00000642186.1:c.*2051-855_*2051-843del (SAMHD1) | ENSP00000494436.1:n.*2051-855_*2051-843del | |
| ENST00000642246.1:c.*1426-855_*1426-843del (SAMHD1) | ENSP00000494979.1:n.*1426-855_*1426-843del | |
| ENST00000643918.1:c.1755_1767del (SAMHD1) | ENSP00000493928.1:p.Arg586AspfsTer4 | |
| ENST00000644114.1:c.1440-855_1440-843del (SAMHD1) | ||
| ENST00000645033.1:c.*924-855_*924-843del (SAMHD1) | ENSP00000494520.1:n.*924-855_*924-843del | |
| ENST00000646066.1:c.1537-855_1537-843del (SAMHD1) | ENSP00000495432.1:n.1537-855_1537-843del | |
| ENST00000646673.2:c.1747-855_1747-843del (SAMHD1) MANE Select | ENSP00000493536.2:n.1747-855_1747-843del | |
| ENST00000646869.1:c.1747-855_1747-843del (SAMHD1) | ENSP00000495667.1:n.1747-855_1747-843del | |
| ENST00000646904.1:c.*953-855_*953-843del (SAMHD1) | ENSP00000494823.1:n.*953-855_*953-843del | |
| ENST00000647095.1:n.2945-855_2945-843del (SAMHD1) | ||
| ENST00000647163.1:c.*924-855_*924-843del (SAMHD1) | ENSP00000494313.1:n.*924-855_*924-843del | |
| ENST00000647459.1:n.2796-855_2796-843del (SAMHD1) | ||
| ENST00000217320.7:c.*1072_*1084del (TLDC2) | ENSP00000217320.3:n.*1072_*1084del | |
| ENST00000262878.4:c.1747-855_1747-843del (SAMHD1) | ENSP00000262878.4:n.1747-855_1747-843del | |
| ENST00000436941.1:c.1129_1141del (TLDC2) | ENSP00000394804.1:n.1129_1141del | |
| NM_001304783.1:c.*1072_*1084del (TLDC2) | NP_001291712.1:n.*1072_*1084del | |
| NM_015474.3:c.1747-855_1747-843del , LRG_281t1:c.1747-855_1747-843del (SAMHD1) | NP_056289.2:n.1747-855_1747-843del | |
| NM_080628.2:c.*1072_*1084del (TLDC2) | NP_542195.1:n.*1072_*1084del | |
| XM_005260384.2:c.1642-855_1642-843del (SAMHD1) | XP_005260441.1:n.1642-855_1642-843del | |
| XM_011528761.1:c.1755_1767del (SAMHD1) | XP_011527063.1:p.Arg586AspfsTer4 | |
| NM_001363729.1:c.1642-855_1642-843del (SAMHD1) | NP_001350658.1:n.1642-855_1642-843del | |
| NM_001363733.1:c.1755_1767del (SAMHD1) | NP_001350662.1:p.Arg586AspfsTer4 | |
| NM_080628.3:c.*1072_*1084del (TLDC2) MANE Select | NP_542195.1:n.*1072_*1084del | |
| NM_001363729.2:c.1642-855_1642-843del (SAMHD1) | NP_001350658.1:n.1642-855_1642-843del | |
| NM_001363733.2:c.1755_1767del (SAMHD1) | NP_001350662.1:p.Arg586AspfsTer4 | |
| NM_015474.4:c.1747-855_1747-843del (SAMHD1) MANE Select | NP_056289.2:n.1747-855_1747-843del |